| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.13381577G>C | CA2860092 | RAB28 | c.409C>G (p.Arg137Gly) c.18C>G c.279C>G (p.Cys93Trp) c.176C>G c.178C>G (p.Arg60Gly) n.624C>G n.742C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.13381577G>T | CA356405002 | RAB28 | c.409C>A (p.Arg137=) c.18C>A c.279C>A (p.Cys93Ter) c.176C>A c.178C>A (p.Arg60=) n.624C>A n.742C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.13381577G>A | CA144657 | RAB28 | c.409C>T (p.Arg137Ter) c.18C>T c.279C>T (p.Cys93=) c.176C>T c.178C>T (p.Arg60Ter) n.624C>T n.742C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |